Peri-implant keratinized mucosa(PIKM)augmentation refers to surgical procedures aimed at increasing the width of PIKM.Consensus reports emphasize the necessity of maintaining a minimum width of PIKM to ensure long-ter...Peri-implant keratinized mucosa(PIKM)augmentation refers to surgical procedures aimed at increasing the width of PIKM.Consensus reports emphasize the necessity of maintaining a minimum width of PIKM to ensure long-term peri-implant health.Currently,several surgical techniques have been validated for their effectiveness in increasing PIKM.However,the selection and application of PIKM augmentation methods may present challenges for dental practitioners due to heterogeneity in surgical techniques,variations in clinical scenarios,and anatomical differences.Therefore,clear guidelines and considerations for PIKM augmentation are needed.This expert consensus focuses on the commonly employed surgical techniques for PIKM augmentation and the factors influencing their selection at second-stage surgery.It aims to establish a standardized framework for assessing,planning,and executing PIKM augmentation procedures,with the goal of offering evidence-based guidance to enhance the predictability and success of PIKM augmentation.展开更多
BACKGROUND Hypertrophic cardiomyopathy(HCM)is one of the most prevalent inherited myocardial disorders and is charac-terized by considerable genetic and phenotypic heterogeneity.A subset of patients with HCM progress ...BACKGROUND Hypertrophic cardiomyopathy(HCM)is one of the most prevalent inherited myocardial disorders and is charac-terized by considerable genetic and phenotypic heterogeneity.A subset of patients with HCM progress to a dilated phase of HCM(DPHCM),which is associated with a poor prognosis;however,the underlying pathogenesis remains inadequately understood.CASE SUMMARY In this study,we present a case involving a pedigree with familial DPHCM and conduct a retrospective review of patients with DPHCM with identified gene mutations.Through panel sequencing targeting the coding regions of 312 genes associated with inherited cardiomyopathy,a heterozygous missense mutation(c.746G>A,p.Arg249Glu)in the MYH7 gene was identified in the proband(III-5).Sanger sequencing subsequently confirmed this pathogenic mutation in three additional family members(II-4,III-4,and IV-3).A total of 26 well-documented patients with DPHCM were identified in the literature.Patients with DPHCM are commonly middle-aged and male.The mean age of patients with DPHCM was 53.43±12.79 years.Heart failure,dyspnoea,and atrial fibrillation were the most prevalent symptoms observed,accompanied by an average left ventricular end-diastolic size of 58.62 mm.CONCLUSION Our findings corroborate the pathogenicity of the MYH7(c.746G>A,p.Arg249Glu)mutation for DPHCM and suggest that the Arg249Gln mutation may be responsible for high mortality.展开更多
BACKGROUND Bouveret syndrome is a rare cause of gastric outlet obstruction resulting from the passage of a gallstone into the duodenum or stomach through a biliary-enteric fistula.It is a complication of chronic chole...BACKGROUND Bouveret syndrome is a rare cause of gastric outlet obstruction resulting from the passage of a gallstone into the duodenum or stomach through a biliary-enteric fistula.It is a complication of chronic cholelithiasis and accounts for only 1%-3%of all gallstone-related intestinal obstructions.CASE SUMMARY A 49-year-old male presented with nausea,vomiting,and upper abdominal pain.Imaging revealed a large gastric stone and a cholecystoduodenal fistula,confirming Bouveret syndrome.An initial endoscopic attempt to remove the stone was unsuccessful,necessitating surgical intervention.The patient subsequently underwent successful stone extraction and fistula repair,followed by an uneventful postoperative recovery.While Bouveret syndrome typically affects elderly individuals(average age:74 years),this case in a younger patient provides valuable insights into its management in this demographic.CONCLUSION Bouveret syndrome is a serious but uncommon condition often presenting with nonspecific symptoms,leading to potential diagnostic delays.Timely diagnosis,usually confirmed by imaging,is critical for optimal outcomes.Although endoscopy is often the first-line therapy,surgery remains essential for cases with failed endoscopic intervention or complex anatomical involvement.This case highlights the importance of recognizing the syndrome’s clinical features in younger patients and enhancing the understanding of its diagnosis and management strategies.展开更多
基金supported by the Natural Science Foundation of Sichuan Province(grant number:25NSFSC0265).
文摘Peri-implant keratinized mucosa(PIKM)augmentation refers to surgical procedures aimed at increasing the width of PIKM.Consensus reports emphasize the necessity of maintaining a minimum width of PIKM to ensure long-term peri-implant health.Currently,several surgical techniques have been validated for their effectiveness in increasing PIKM.However,the selection and application of PIKM augmentation methods may present challenges for dental practitioners due to heterogeneity in surgical techniques,variations in clinical scenarios,and anatomical differences.Therefore,clear guidelines and considerations for PIKM augmentation are needed.This expert consensus focuses on the commonly employed surgical techniques for PIKM augmentation and the factors influencing their selection at second-stage surgery.It aims to establish a standardized framework for assessing,planning,and executing PIKM augmentation procedures,with the goal of offering evidence-based guidance to enhance the predictability and success of PIKM augmentation.
基金Supported by National Natural Science Foundation of China,No.81770379.
文摘BACKGROUND Hypertrophic cardiomyopathy(HCM)is one of the most prevalent inherited myocardial disorders and is charac-terized by considerable genetic and phenotypic heterogeneity.A subset of patients with HCM progress to a dilated phase of HCM(DPHCM),which is associated with a poor prognosis;however,the underlying pathogenesis remains inadequately understood.CASE SUMMARY In this study,we present a case involving a pedigree with familial DPHCM and conduct a retrospective review of patients with DPHCM with identified gene mutations.Through panel sequencing targeting the coding regions of 312 genes associated with inherited cardiomyopathy,a heterozygous missense mutation(c.746G>A,p.Arg249Glu)in the MYH7 gene was identified in the proband(III-5).Sanger sequencing subsequently confirmed this pathogenic mutation in three additional family members(II-4,III-4,and IV-3).A total of 26 well-documented patients with DPHCM were identified in the literature.Patients with DPHCM are commonly middle-aged and male.The mean age of patients with DPHCM was 53.43±12.79 years.Heart failure,dyspnoea,and atrial fibrillation were the most prevalent symptoms observed,accompanied by an average left ventricular end-diastolic size of 58.62 mm.CONCLUSION Our findings corroborate the pathogenicity of the MYH7(c.746G>A,p.Arg249Glu)mutation for DPHCM and suggest that the Arg249Gln mutation may be responsible for high mortality.
基金Supported by Medical and Health Technology Project of Hangzhou,No.ZD20240015.
文摘BACKGROUND Bouveret syndrome is a rare cause of gastric outlet obstruction resulting from the passage of a gallstone into the duodenum or stomach through a biliary-enteric fistula.It is a complication of chronic cholelithiasis and accounts for only 1%-3%of all gallstone-related intestinal obstructions.CASE SUMMARY A 49-year-old male presented with nausea,vomiting,and upper abdominal pain.Imaging revealed a large gastric stone and a cholecystoduodenal fistula,confirming Bouveret syndrome.An initial endoscopic attempt to remove the stone was unsuccessful,necessitating surgical intervention.The patient subsequently underwent successful stone extraction and fistula repair,followed by an uneventful postoperative recovery.While Bouveret syndrome typically affects elderly individuals(average age:74 years),this case in a younger patient provides valuable insights into its management in this demographic.CONCLUSION Bouveret syndrome is a serious but uncommon condition often presenting with nonspecific symptoms,leading to potential diagnostic delays.Timely diagnosis,usually confirmed by imaging,is critical for optimal outcomes.Although endoscopy is often the first-line therapy,surgery remains essential for cases with failed endoscopic intervention or complex anatomical involvement.This case highlights the importance of recognizing the syndrome’s clinical features in younger patients and enhancing the understanding of its diagnosis and management strategies.
